chr11:17482160:C>T Detail (hg19) (ABCC8)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,482,160-17,482,160 |
hg38 | chr11:17,460,613-17,460,613 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001287174.1:c.886G>A | NP_001274103.1:p.Gly296Arg |
NM_000352.4:c.886G>A | NP_000343.2:p.Gly296Arg | |
Ensemble | ENST00000646902.1:c.883G>A | ENST00000646902.1:p.Gly295Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-02-02 | criteria provided, single submitter | not specified |
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Detail |
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2020-01-22 | criteria provided, single submitter | Monogenic diabetes |
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Detail |
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2020-09-16 | no assertion criteria provided | Hereditary hyperinsulinism |
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Detail |
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2021-11-16 | criteria provided, single submitter | Hyperinsulinemic hypoglycemia, familial, 1 |
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Detail |
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2022-03-14 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus |
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Detail |
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2022-03-14 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus |
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Detail |
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2022-03-14 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus |
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Detail |
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2022-03-14 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus |
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Detail |
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2022-03-14 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 2,Hyperinsulinemic hypoglycemia, familial, 1,Diabetes mellitus, permanent neonatal 3,Leucine-induced hypoglycemia,type 2 diabetes mellitus |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.133 | Neonatal diabetes mellitus | NA | CLINVAR | Detail | |
0.009 | Diabetes | Here, we report a case of diabetes in a 7-mo old child with compound heterozygou... | BeFree | 22562119 | Detail |
0.021 | diabetes mellitus | Here, we report a case of diabetes in a 7-mo old child with compound heterozygou... | BeFree | 22562119 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND not specified | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Monogenic diabetes | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hereditary hyperinsulinism | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hyperinsulinemic hypoglycemia, familial, 1 | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions | ClinVar | Detail |
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8... | DisGeNET | Detail |
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs148529020 dbSNP
- Genome
- hg19
- Position
- chr11:17,482,160-17,482,160
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8594
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120484
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.29985724245543E-6
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